LOCUS       NM_032856               5331 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens WD repeat domain 73 (WDR73), transcript variant 1,
            mRNA.
ACCESSION   NM_032856
VERSION     NM_032856.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5331)
  AUTHORS   Tilley,F.C., Arrondel,C., Chhuon,C., Boisson,M., Cagnard,N.,
            Parisot,M., Menara,G., Lefort,N., Guerrera,I.C., Bole-Feysot,C.,
            Benmerah,A., Antignac,C. and Mollet,G.
  TITLE     Disruption of pathways regulated by Integrator complex in
            Galloway-Mowat syndrome due to WDR73 mutations
  JOURNAL   Sci Rep 11 (1), 5388 (2021)
   PUBMED   33686175
  REMARK    GeneRIF: Disruption of pathways regulated by Integrator complex in
            Galloway-Mowat syndrome due to WDR73 mutations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5331)
  AUTHORS   El Younsi,M., Kraoua,L., Meddeb,R., Ferjani,M., Trabelsi,M.,
            Ouertani,I., Maazoul,F., Abid,N., Gargah,T. and M'rad,R.
  TITLE     WDR73-related galloway mowat syndrome with collapsing
            glomerulopathy
  JOURNAL   Eur J Med Genet 62 (9), 103550 (2019)
   PUBMED   30315938
  REMARK    GeneRIF: A new homozygous missense mutation was identified in two
            siblings with Galloway-Mowat syndrome.
REFERENCE   3  (bases 1 to 5331)
  AUTHORS   Al-Rakan,M.A., Abothnain,M.D., Alrifai,M.T. and Alfadhel,M.
  TITLE     Extending the ophthalmological phenotype of Galloway-Mowat syndrome
            with distinct retinal dysfunction: a report and review of ocular
            findings
  JOURNAL   BMC Ophthalmol 18 (1), 147 (2018)
   PUBMED   29929488
  REMARK    GeneRIF: We expanded the clinical phenotype of GMS with WDR73 gene
            defect to include retinal dysfunction with missense mutation and
            developmental dysplasia of the hip.
            Review article
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5331)
  AUTHORS   Jiang,C., Gai,N., Zou,Y., Zheng,Y., Ma,R., Wei,X., Liang,D. and
            Wu,L.
  TITLE     WDR73 missense mutation causes infantile onset intellectual
            disability and cerebellar hypoplasia in a consanguineous family
  JOURNAL   Clin Chim Acta 464, 24-29 (2017)
   PUBMED   27983999
  REMARK    GeneRIF: WDR73 as a candidate gene of severe intellectual
            disability and cerebellar hypoplasia.
REFERENCE   5  (bases 1 to 5331)
  AUTHORS   Vodopiutz,J., Seidl,R., Prayer,D., Khan,M.I., Mayr,J.A.,
            Streubel,B., Steiss,J.O., Hahn,A., Csaicsich,D., Castro,C.,
            Assoum,M., Muller,T., Wieczorek,D., Mancini,G.M., Sadowski,C.E.,
            Levy,N., Megarbane,A., Godbole,K., Schanze,D., Hildebrandt,F.,
            Delague,V., Janecke,A.R. and Zenker,M.
  TITLE     WDR73 Mutations Cause Infantile Neurodegeneration and Variable
            Glomerular Kidney Disease
  JOURNAL   Hum Mutat 36 (11), 1021-1028 (2015)
   PUBMED   26123727
  REMARK    GeneRIF: We document postnatal onset of CA, a retinopathy, basal
            ganglia degeneration, and short stature as novel features of
            WDR73-related disease, and define WDR73-related disease as a new
            entity of infantile neurodegeneration.
REFERENCE   6  (bases 1 to 5331)
  AUTHORS   Jinks,R.N., Puffenberger,E.G., Baple,E., Harding,B., Crino,P.,
            Fogo,A.B., Wenger,O., Xin,B., Koehler,A.E., McGlincy,M.H.,
            Provencher,M.M., Smith,J.D., Tran,L., Al Turki,S., Chioza,B.A.,
            Cross,H., Harlalka,G.V., Hurles,M.E., Maroofian,R., Heaps,A.D.,
            Morton,M.C., Stempak,L., Hildebrandt,F., Sadowski,C.E.,
            Zaritsky,J., Campellone,K., Morton,D.H., Wang,H., Crosby,A. and
            Strauss,K.A.
  TITLE     Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome
            spectrum is caused by homozygous protein-truncating mutations of
            WDR73
  JOURNAL   Brain 138 (Pt 8), 2173-2190 (2015)
   PUBMED   26070982
  REMARK    GeneRIF: WDR73 interacts with mitotic microtubules to regulate cell
            cycle progression, proliferation and survival in brain
REFERENCE   7  (bases 1 to 5331)
  AUTHORS   Ben-Omran,T., Fahiminiya,S., Sorfazlian,N., Almuriekhi,M.,
            Nawaz,Z., Nadaf,J., Khadija,K.A., Zaineddin,S., Kamel,H.,
            Majewski,J. and Tropepe,V.
  TITLE     Nonsense mutation in the WDR73 gene is associated with
            Galloway-Mowat syndrome
  JOURNAL   J Med Genet 52 (6), 381-390 (2015)
   PUBMED   25873735
  REMARK    GeneRIF: Nonsense mutation in the WDR73 gene is associated with
            Galloway-Mowat syndrome
REFERENCE   8  (bases 1 to 5331)
  AUTHORS   Colin,E., Huynh Cong,E., Mollet,G., Guichet,A., Gribouval,O.,
            Arrondel,C., Boyer,O., Daniel,L., Gubler,M.C., Ekinci,Z.,
            Tsimaratos,M., Chabrol,B., Boddaert,N., Verloes,A., Chevrollier,A.,
            Gueguen,N., Desquiret-Dumas,V., Ferre,M., Procaccio,V., Richard,L.,
            Funalot,B., Moncla,A., Bonneau,D. and Antignac,C.
  TITLE     Loss-of-function mutations in WDR73 are responsible for
            microcephaly and steroid-resistant nephrotic syndrome:
            Galloway-Mowat syndrome
  JOURNAL   Am J Hum Genet 95 (6), 637-648 (2014)
   PUBMED   25466283
  REMARK    GeneRIF: WDR73 plays a crucial role in the maintenance of cell
            architecture and cell survival.
REFERENCE   9  (bases 1 to 5331)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC048382.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 30, 2019 this sequence version replaced NM_032856.4.
            
            Summary: The protein encoded by this gene is thought to contain
            multiple WD40 repeats. WD40 repeats are motifs that contain 40-60
            amino acids, and usually end with Trp-Asp (WD). This protein is
            found in the cytoplasm during interphase, but accumulates at the
            spindle poles and astral microtubules during mitosis. Reduced
            expression of this gene results in abnormalities in the size and
            morphology of the nucleus. Mutations in this gene have been
            associated with Galloway-Mowat syndrome PMID: 25466283), which is a
            rare autosomal recessive disorder that affects both the central
            nervous system and kidneys. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (1) encodes the protein.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK225068.1, AK027794.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000434634.7/ ENSP00000387982.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-50                AC048382.7         162992-163041       c
            51-118              AC048382.7         162390-162457       c
            119-207             AC048382.7         161472-161560       c
            208-296             AC048382.7         157295-157383       c
            297-361             AC048382.7         156648-156712       c
            362-526             AC048382.7         154942-155106       c
            527-892             AC048382.7         154229-154594       c
            893-5331            AC048382.7         148043-152481       c
FEATURES             Location/Qualifiers
     source          1..5331
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q25.2"
     gene            1..5331
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="WD repeat domain 73"
                     /db_xref="GeneID:84942"
                     /db_xref="HGNC:HGNC:25928"
                     /db_xref="MIM:616144"
     exon            1..50
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..1146
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="FLJ00296 protein"
                     /codon_start=1
                     /product="WD repeat-containing protein 73"
                     /protein_id="NP_116245.2"
                     /db_xref="CCDS:CCDS45339.1"
                     /db_xref="GeneID:84942"
                     /db_xref="HGNC:HGNC:25928"
                     /db_xref="MIM:616144"
                     /translation="MDPGDDWLVESLRLYQDFYAFDLSGATRVLEWIDDKGVFVAGYE
                     SLKKNEILHLKLPLRLSVKENKGLFPERDFKVRHGGFSDRSIFDLKHVPHTRLLVTSG
                     LPGCYLQVWQVAEDSDVIKAVSTIAVHEKEESLWPRVAVFSTLAPGVLHGARLRSLQV
                     VDLESRKTTYTSDVSDSEELSSLQVLDADTFAFCCASGRLGLVDTRQKWAPLENRSPG
                     PGSGGERWCAEVGSWGQGPGPSIASLGSDGRLCLLDPRDLCHPVSSVQCPVSVPSPDP
                     ELLRVTWAPGLKNCLAISGFDGTVQVYDATSWDGTRSQDGTRSQVEPLFTHRGHIFLD
                     GNGMDPAPLVTTHTWHPCRPRTLLSATNDASLHVWDWVDLCAPR"
     exon            51..118
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     exon            119..207
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     exon            208..296
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     exon            297..361
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     exon            362..526
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     exon            527..892
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     exon            893..5331
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1460..1465
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="hexamer: AACAAA"
     polyA_site      1471
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="major polyA site"
     regulatory      1515..1520
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="hexamer: AATAAA"
     polyA_site      1535
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="major polyA site"
     regulatory      5307..5312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="hexamer: AATAAA"
     polyA_site      5331
                     /gene="WDR73"
                     /gene_synonym="GAMOS; GAMOS1; HSPC264"
                     /note="major polyA site"
ORIGIN      
        1 gtcgttgcca tggatcctgg ggacgactgg ctggtggaat ccttgcgctt gtaccaggat
       61 ttctatgcat tcgacctgtc aggagccact cgagtccttg aatggattga tgacaaagga
      121 gtctttgttg ctggctatga aagcctgaaa aagaatgaaa ttcttcatct gaaattacct
      181 ctcagacttt ctgtaaagga aaacaagggc ttattcccag aaagagattt caaagtgcgc
      241 catggaggat tttcagacag gtctatcttt gatctaaagc atgtgccaca taccagattg
      301 ctggttacca gtggccttcc aggttgttat ctgcaggtgt ggcaggttgc agaggacagt
      361 gatgtcatta aagctgtcag caccattgct gtgcatgaga aagaggagag tctctggcct
      421 agggtggccg tcttctccac attggcaccc ggagtcctcc atggggcgag gctccgaagt
      481 ctgcaggtcg ttgatctgga gtcccggaag accacgtaca cctcagatgt cagtgacagt
      541 gaggagctga gtagcctgca ggtcctagat gcagacacct ttgccttctg ctgtgcttca
      601 ggccggctgg ggcttgttga cacccggcag aagtgggcac cgttggagaa tcgcagccct
      661 ggccctgggt ctggtggaga gagatggtgt gctgaagttg ggagctgggg ccagggccct
      721 gggcccagca ttgccagcct tggctcagat gggcgtcttt gtcttcttga cccccgggat
      781 ctctgccatc ctgtgagctc agtccagtgc ccagtatccg tacctagccc tgacccagag
      841 ctgctgcgag tgacttgggc cccaggcctg aagaattgct tggccatctc aggttttgat
      901 ggtacagtcc aggtctatga tgccacatct tgggatggaa cacggagcca agatggaaca
      961 cggagccaag tagaacctct cttcactcac agaggtcaca tcttcctaga tggaaatggg
     1021 atggaccctg ctcctttggt caccacccac acctggcatc cctgcagacc aaggactttg
     1081 ttatcagcaa caaatgatgc ctctctgcat gtgtgggact gggtggacct ttgtgccccc
     1141 cgctgacacc agcatctttc catctaggcc tctagaaagg ggaggagctg ctgtagtagc
     1201 aagggtgctc atgtaggact caagtgacta ccagtccctg ttaccagctg tgtggccttg
     1261 ggcaagtctg ccagcgtcac ttagcctcag tttccttatc tgtaaaatga ggatagtaag
     1321 aactacctcg tagtgatatt gcgaaggtta gaagaaacgc atggcataat tacttggtag
     1381 ctattgttag atctgggagt gtgaaatggt agcgttttgt ccctgtcttc acactatcat
     1441 agggagaatc aaaagagcta acaaatataa acatgctttg tgaatttttt taaagaaaaa
     1501 aatgtagagg ggccaataaa catgaaaaaa tcccagccct agtagcaatt aaggaaatag
     1561 caaaacagga tttctgctcc tcttgagtgg gtctcatggg aacacaggtg cactttccca
     1621 cacttgtccc cccaggtgac taggttcaag agacatttgc ttttggtggc cccacaaaca
     1681 tttccttttg agggcccata gtgaatatta aagtgtgctg gacatggtgg ctcatgcctg
     1741 taatcccagc actttcagag gctgaggtgg gcagattgct tgagctgagg agtttgagac
     1801 cagcctgggc aacatagcaa gatcccttcc cttaaaaaaa aaaaaaaatt tggctgggca
     1861 tggtggctca tgcctgtaat cccagcaatg taggcagcca agacaggtgg atcacttgag
     1921 tccaggagtt cgagactagc ctgagcaaca tggcgaaacc ttgtctctac taaaaataca
     1981 agttagctgg ttgtggtggt atgagcctgc agtcccagct attcaagagg ctgaggtggg
     2041 agggttgcct gagcctggca gttgaagttt gcagtgagct gtgatcatgc cactgtattc
     2101 cagcctgggc aacagaatga gaccctgtta cacacacaca cacaaaatag ataagttgtt
     2161 cactctgtca gcatctatta gcccttccca tgtgcaacac taattacatg ctagaaatac
     2221 ataaatgaga ggcttcctaa ggtggttgaa tttttttttt tttttttttt gtagtagaga
     2281 tggagtcttg ctctgtcacc caggcttgag tgcagtggcg tgatctcggc tcactgcaac
     2341 ctccacctca tgggttcaag caatgctcct gcctcagcct gccaagtagc tgggattaca
     2401 ggcacgtacc accatgccca ggtaattttt gtatttttgg tacagacgga gtttcaccat
     2461 gttggccaga atggtcttga tctcttgacc ttgtgatcta cccacctcgg cctcccgaag
     2521 agctgggatt acaggtgtga gccaccgcgc ccggccaggg gatttctcct gtgtgaattc
     2581 gctggttaag tgataattaa ctgcagttaa aattcaggtc aagcatgtgg ctcatgtctg
     2641 taatcccagt actttgggag gctgaggtgg gaggatagct tgagtccagg aggagttcga
     2701 gatcagcctg ggcaccatgg tgaacccctg tctctaaaaa aaaagaaaga tttttattta
     2761 aaaaacctaa acaaattcag ataggaattt aaagatagac caggcacagt ggctcacgcc
     2821 tgtaatccca gcactttgtg gggggccaag gtgggtggat cacttgaggt caggagttca
     2881 agaccagcct ggccaacatg gtgaaacccc gtctctacta aaaatataaa aattagagac
     2941 gggcatggtg gtggcacacc tgtaatcccc actactcagg agggtgaggc aggagaattg
     3001 cttgaacctg agaggtagag gctgcagtga accgagattg tgccactgca ttccagcctg
     3061 ggtgacaggg tgagactcca tctcaaaaaa aataaaataa agataaaatc ataaacactc
     3121 ataattcagt tatacctttt ttcaagtaac taaagttcaa acttacttag gggaacaggc
     3181 tttcctgggt gccacctgct tctcaagtcc tgtgctttcc acaccacaga atagtaaact
     3241 gggtgcactg agtgcctggt tcccctcagc ccttaaccag tgctggcttg tccgagttta
     3301 gaatcccagg gctgactttg ttggtggaat gctagctccc attcatttcc cacctgcact
     3361 ggacgttttc tgaatctcct tgaagtccgg gagatcttca ttccaaagct cttcactttt
     3421 ctgcagcatt gtgaccccat ctggctgggg aactggaagt cctgctcaga gaaaagcagg
     3481 aggggacatg gagttctgaa attcactttc tgctcccatg tctggaagtg acaggtgaaa
     3541 tgagaatgat agtgcctctc aagaaggtct agttcccaga agagaaagtt taatgactca
     3601 ttttccccct tttactcctt tgagggtaca ggataatgcc cttatctatt ttcataataa
     3661 ttataatgat gatgataatg aaaactaacg tttgccaagt gctaatactg tgtcaggatc
     3721 ctcataacag cccagggagg tagaaaccat cacaatgtcc actgtccaga tgagaaaatg
     3781 gaggctaagg gtatttaaag aggttgccca agaacaacaa accttttaaa tggcagactg
     3841 gtgtgtataa tctacgcagg gttcacatct atggaacact ttattttaaa ttcttttaat
     3901 aatattatta tttttcagct gagtctgggt ctcactctgt cgcccaggct ggaatgcagt
     3961 ggcatgatca cagctcactg cggcctccaa ctcctgggct caagtgattc tcctgcccca
     4021 gcctcccgag tagctgggac tacaggcttg cgccaccatg cccggcttat agggcacttt
     4081 agatggaaac aaatgactgg atctttaact cctacctttc tctcctctct tcctgtaatg
     4141 ttgttactga aggcaggaag ggagactcct tggctaaaga gcagagcaag agcctcaaag
     4201 tggtctttgt gagccaccct ggactactgg ttcagtagag ggttgagtca agcaatattt
     4261 gaggacggga tataaacagt atttcttaaa gttgtcacca atttttcccc cgatgaggcc
     4321 attccagacc caaattagtc ataacagagc caggacaata atcacatctc ctgattctga
     4381 gcctgaatgc ttcccacagg actgcgtcgc tcccactgct ctgaggtcca ttgtggggga
     4441 gagttgccac tgggattcca cctcaaggcc tggggaccaa gcctccagga ttcctcttga
     4501 gactcctcca ctatttcatt accatcccgc cacatcttct agtgctatgc cctggttccc
     4561 tttggaatcc tctcaatccc aaagaaggcc tcctaccacc tctaaggcat caaaggtgtt
     4621 agaaagtgcc ccaagactca acagggcatc catctcatca tagaagacac tggtgcctgg
     4681 tgtgtaggtg ctcctggctt tgcagtagtc ggtcaggagg tttttgaacc gatagcaaca
     4741 ttgctccagg gtccacagga agccatgttc tcacagctgc tcagccataa tccggtacac
     4801 ctggtggttt cgatggcagg tgcggagttt ttcgtggatc caggcctctg agaattccca
     4861 gaaaaatctt ggtttctttg tatccccagt gcactcctgc caccttctca tcctccaggg
     4921 cctgccactc cagctcgctc caggtcttgg cttttctcca gattagcacc tggccagact
     4981 tgactctcac cccagccact gagcagtctt tcacactctc tttttctcca gaatttgaag
     5041 atctagatgc tgtgggtttt catcctactc cacgtgggag ttcactttgg gcctatggat
     5101 tggaaaatct gtttgcaggc agacaaaagg gagatgtaat ggtttggtaa atctaatccc
     5161 aaccatttta tatgccaggg agaggagata gtaatttttt ttttttaatt ctggggggat
     5221 tcttgggaaa gctcagtgaa aagaacaact agaaaaaaaa attcaggccc aaatgcataa
     5281 ctatatatcc acgttcatct atcttaaata aaattcagac acatacctaa a
//
